Casp8 MGI Mouse Gene Detail - MGI:1261423

Symbol

Casp8
Name

caspase 8
Synonyms

Caspase-8, FLICE, MACH, Mch5

Feature Type

protein coding gene
IDs

MGI:1261423
NCBI Gene: 12370
Alliance

gene page
Transcription Start Sites

18 TSS
Candidate for QTL

1 QTL

Sequence Map

Chr1:58834553-58886663 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 29.19 cM, cytoband B
Mapping Data

11 experiments

SNPs within 2kb

1081 from dbSNP Build 142
Strain Annotations

18
PCR

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1261423	protein coding gene	Chr1:58834533-58886663 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0016058	protein coding gene	Chr1:58725129-58771896 (+)
A/J	MGP_AJ_G0016041	protein coding gene	Chr1:56657243-56704074 (+)
AKR/J	MGP_AKRJ_G0015997	protein coding gene	Chr1:58207303-58253636 (+)
BALB/cJ	MGP_BALBcJ_G0015996	protein coding gene	Chr1:56690268-56738628 (+)
C3H/HeJ	MGP_C3HHeJ_G0015828	protein coding gene	Chr1:58486316-58539975 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0016449	protein coding gene	Chr1:61066741-61112266 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0014170	protein coding gene	Chr1:52542943-52589507 (+)
CAST/EiJ	MGP_CASTEiJ_G0015410	protein coding gene	Chr1:57663842-57720601 (+)
CBA/J	MGP_CBAJ_G0015800	protein coding gene	Chr1:62912772-62973117 (+)
DBA/2J	MGP_DBA2J_G0015901	protein coding gene	Chr1:56093093-56141632 (+)
FVB/NJ	MGP_FVBNJ_G0015903	protein coding gene	Chr1:55409069-55468335 (+)
LP/J	MGP_LPJ_G0015973	protein coding gene	Chr1:59611288-59668402 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0015923	protein coding gene	Chr1:65893560-65941392 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0016496	protein coding gene	Chr1:58165866-58209140 (+)
PWK/PhJ	MGP_PWKPhJ_G0015197	protein coding gene	Chr1:55444811-55492517 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0014976	protein coding gene	Chr1:57673878-57728353 (+)
WSB/EiJ	MGP_WSBEiJ_G0015473	protein coding gene	Chr1:57859822-57918414 (+)

Human Ortholog

CASP8, caspase 8

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CASP8, caspase 8
Synonyms

ALPS2B, CAP4, Casp-8, FLICE, MACH, MCH5
Links

HGNC:1509

NCBI Gene ID: 841

neXtProt AC: NX_Q14790

UniProt: Q14790
Chr Location

2q33.1; chr2:201233443-201361836 (+) GRCh38

MGI Vertebrate Homology

Casp8 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: CASP8
Gene Tree

Casp8

Diseases

2 with Casp8 mouse models; 7 with human CASP8 associations

Human Disease

Mouse Models

autoimmune lymphoproliferative syndrome type 2B

IDs

View 1 model

atopic dermatitis

IDs

View 1 model

breast cancer

IDs

esophagus adenocarcinoma

IDs

hepatocellular carcinoma

IDs

lung cancer

IDs

pancreatic cancer

IDs

primary immunodeficiency disease

IDs

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

2 with disease annotations

References

2 with disease annotations

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Phenotype Summary

105 phenotypes from 14 alleles in 14 genetic backgrounds
62 phenotypes from multigenic genotypes
199 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

38
Chemically induced (ENU)

3
Chemically induced (other)

1
Endonuclease-mediated

18
Radiation induced

1
Targeted

15
Genomic Mutations

2 involving Casp8
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

45 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygotes for a targeted null mutation exhibit impaired cardiac muscle development, cardiac erythrocyte congestion, low numbers of colony-forming cells, and prenatal lethality. T-cell restricted knockout mice are viable, but immunodeficient. Homozygosity for an auto-cleavage deficient allele leads to splenomegaly and decreased apoptosis.

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All GO Annotations

117
GO References

47

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

844
Tissues

76
cDNA Data

35
Literature Summary

60

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GENSAT

GEO

Expression Atlas
Other Vertebrate Links

Xenbase casp8

ZFIN casp8

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All Sequences

70
RefSeq

24
UniProt

4
CCDS

CCDS14979.1, CCDS78590.1

Ensembl

ENSMUSG00000026029 (Evidence)
NCBI Gene

12370

			Length	Strain/Species	Flank
genomic	12370	NCBI Gene Model \| MGI Sequence Detail	52111	C57BL/6J	± kb
transcript	NM_001420041	RefSeq \| MGI Sequence Detail	2682	ZRU/MplStud
polypeptide	O89110	UniProt \| EBI \| MGI Sequence Detail	480	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000002317 caspase-8

(term hierarchy)
EC

3.4.22.61
InterPro Domains

IPR051290 CASP8 and FADD-like apoptosis regulator

IPR033170 Caspase-8, death effector domain 1

IPR029030 Caspase-like domain superfamily

IPR001875 Death effector domain

IPR011029 Death-like domain superfamily

IPR015917 Peptidase C14A, caspase catalytic domain

IPR011600 Peptidase C14, caspase domain

IPR002138 Peptidase C14, caspase non-catalytic subunit p10

IPR001309 Peptidase C14, p20 domain

IPR033139 Peptidase family C14A, cysteine active site

IPR016129 Peptidase family C14A, His active site
GlyGen

O89110 1 site, 1 O-linked glycan (1 site)

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All nucleic 58

Genomic 14

cDNA 36

Primer pair 7

Other 1

Microarray probesets 3

Summaries

All 383

Developmental Gene Expression 60

Diseases 2

Gene Ontology 47

Phenotypes 199
Earliest

J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
Latest

J:353050 Krishnacoumar B, et al., Caspase-8 promotes scramblase-mediated phosphatidylserine exposure and fusion of osteoclast precursors. Bone Res. 2024 Jul 11;12(1):40

TSS for Casp8:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr6833	Chr1:58834530-58834606 (+)	15 bp
Tssr6834	Chr1:58834621-58834718 (+)	117 bp
Tssr6835	Chr1:58834746-58834760 (+)	200 bp
Tssr6836	Chr1:58834777-58834798 (+)	235 bp
Tssr6837	Chr1:58834815-58834826 (+)	268 bp
Tssr6838	Chr1:58834830-58834841 (+)	283 bp
Tssr6839	Chr1:58834851-58834869 (+)	307 bp
Tssr6840	Chr1:58835090-58835104 (+)	544 bp
Tssr6841	Chr1:58835483-58835495 (+)	936 bp
Tssr6842	Chr1:58841651-58841676 (+)	7,111 bp
Tssr6843	Chr1:58841696-58841701 (+)	7,146 bp
Tssr6844	Chr1:58841736-58841739 (+)	7,185 bp
Tssr6845	Chr1:58841753-58841796 (+)	7,222 bp
Tssr6846	Chr1:58841808-58841815 (+)	7,259 bp
Tssr6847	Chr1:58870744-58870791 (+)	36,215 bp
Tssr6848	Chr1:58885962-58885977 (+)	51,417 bp
Tssr6849	Chr1:58886029-58886047 (+)	51,485 bp
Tssr6850	Chr1:58886073-58886094 (+)	51,531 bp

Casp8 is Candidate Gene for:

QTL	Genetic Location*	Genome Location (GRCm39)	Reference	QTL Note
Idd5	Chr1, syntenic		J:71276	The authors mention the following genes mapping near Idd5 as possible candidates: Bcl2, Casp8, and Ctla4.

*cM position of peak correlated region/marker

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/10/2024 MGI 6.24